Page 19 of 20

PE30.1-7 | Endocrinology — Assignment

CLINICAL SCENARIO

You will analyse a complex paediatric endocrine case — drawn from one of the following presentations: (1) a neonate with congenital hypothyroidism identified on newborn screening, (2) a child presenting with new-onset diabetic ketoacidosis, (3) a neonate with ambiguous genitalia and suspected congenital adrenal hyperplasia, or (4) a child with precocious puberty or growth deviation requiring referral. You will construct a structured clinical case report that demonstrates your ability to recognise the presentation, justify the diagnosis, plan emergency and long-term management, and address the family's concerns. This task mirrors the decision-making expected of a junior doctor managing these conditions in a district or tertiary paediatric setting.

Instructions

Select ONE of the four case scenarios below (your facilitator will assign one if not self-selected). Write a structured case report as described in the scaffolding section. Use evidence-based management guidelines (IAP, ISPAD, NNF, WHO) and cite your references. All drug doses must be stated as mg/kg or mcg/kg (weight-based). Do not use adult fixed doses.

Case Scenarios:
1. Neonatal Congenital Hypothyroidism: A 5-day-old term male neonate has a heel-prick TSH of 85 mIU/L. Serum TSH confirms 78 mIU/L with free T4 of 5 pmol/L. The baby has prolonged jaundice, large anterior fontanelle, and poor feeding.
2. New-Onset DKA: A 12-year-old girl presents with 2-week history of polyuria, polydipsia, 4 kg weight loss, and one day of vomiting. Blood glucose 30 mmol/L, pH 7.10, bicarbonate 7 mEq/L, serum K+ 5.2 mEq/L. She is drowsy but responsive.
3. Ambiguous Genitalia and Suspected CAH: A 2-day-old neonate is born with ambiguous genitalia. Karyotype 46,XX. 17-OHP is 280 nmol/L. Na 130, K 6.4 mEq/L.
4. Growth Deviation and Referral Planning: An 8-year-old boy has crossed from the 50th to the 3rd centile over 2 years. Bone age is 5.5 years. IGF-1 is low. GH stimulation peak = 4 ng/mL. TSH is normal.

Length: 1200–1600 words (excluding references and calculations)

What to Submit

Case Summary and Clinical Presentation

Guidance: Briefly summarise the case in 3–5 sentences. Identify the key features from the history, examination, and investigations that alerted you to an endocrine diagnosis. State which case scenario you are analysing.

Differential Diagnosis and Diagnostic Reasoning

Guidance: List 2–3 differential diagnoses in order of likelihood. For your leading diagnosis, explain the diagnostic criteria or confirmatory investigations used (e.g., serum TSH + free T4 for congenital hypothyroidism; pH + bicarbonate + ketones for DKA; 17-OHP + karyotype for CAH; GH stimulation test for GH deficiency). State clearly why the other differentials are less likely.

Emergency Management (first 24–48 hours)

Guidance: Detail the immediate management steps with weight-based calculations where relevant. For DKA: specify fluid volume (ml/kg), rate, electrolyte monitoring, insulin infusion rate (U/kg/hr), and cerebral oedema monitoring. For congenital hypothyroidism: state levothyroxine dose (mcg/kg/day) and monitoring targets. For CAH adrenal crisis: state hydrocortisone dose (mg/m² stat), fluid management, and electrolyte targets. For growth deviation: identify urgent investigations required before referral.

Long-Term Management and Follow-Up Plan

Guidance: Outline the ongoing management for the next 6–12 months. Include: monitoring parameters and their frequency, drug dose adjustments, and multidisciplinary team involvement (endocrinology, nutrition, psychosocial support, genetics). Address pubertal timing monitoring where relevant (e.g., CAH, GH deficiency).

Family Counselling and Communication

Guidance: Write the key points you would communicate to the family (in plain language, no medical jargon). Address: what the diagnosis means, what daily management involves, the importance of adherence, signs of a crisis they should watch for (e.g., adrenal crisis symptoms in CAH, hypoglycaemia in DKA, symptoms of under/over-replacement in hypothyroidism), and long-term prognosis with treatment.

Reflection and Learning

Guidance: In 150–200 words, reflect on one aspect of this case that challenged your prior understanding of paediatric endocrinology. What did you learn about weight-based dosing, the urgency of treatment, or the importance of not delaying referral? How will this change your clinical practice?

Grading Rubric — Paediatric Endocrine Case Report Rubric

Criterion	Points	Full-marks descriptor
Clinical Reasoning and Diagnosis: Accuracy and completeness of the diagnostic reasoning, appropriate use of diagnostic criteria, and quality of differential diagnosis.	25 pts	Leading diagnosis is correct with precise citation of all confirmatory criteria (e.g., exact TSH/free T4 targets, pH/bicarbonate/ketone thresholds, 17-OHP values, GH stimulation cut-offs). Differentials are relevant and clearly excluded with specific reasons.
Emergency Management with Weight-Based Dosing: Correctness, completeness, and precision of the immediate management plan, including all drug doses stated as mg/kg or mcg/kg.	25 pts	All emergency interventions are correctly described with weight-based doses (e.g., levothyroxine 10–15 mcg/kg/day; insulin infusion 0.05–0.1 U/kg/hr; hydrocortisone 25 mg/m²); fluid volumes, electrolyte monitoring, and complication prevention (e.g., cerebral oedema watch in DKA) are included.
Long-Term Management and Follow-Up Plan: Quality, completeness, and clinical appropriateness of the ongoing management strategy including monitoring frequency and MDT involvement.	20 pts	Long-term plan is comprehensive: monitoring parameters with specific frequencies (e.g., TSH at 2 weeks, 6 weeks, 6 months; HbA1c 3-monthly; bone age yearly; K+ daily in DKA recovery), dose adjustment principles, and relevant MDT referrals (endocrinology, nutrition, psychology, genetics) are included.
Family Counselling Communication: Clarity, appropriateness, and completeness of the family counselling content, including crisis warning signs, adherence messaging, and plain-language explanation of prognosis.	20 pts	Family counselling section is written in accessible language (no unexplained jargon), covers daily management requirements, specific crisis warning signs with clear instruction to seek emergency care (e.g., adrenal crisis, hypoglycaemia, severe DKA), long-term prognosis with treatment, and a reassuring but realistic tone.
Reflection and Evidence-Based Referencing: Depth of clinical reflection and quality of cited references (IAP, ISPAD, NNF, WHO, Ghai, Nelson).	10 pts	Reflection is specific and insightful, demonstrating genuine change in understanding of a concrete clinical concept. A minimum of 3 peer-reviewed or guideline references are cited correctly in the appropriate sections.

PEER REVIEW

Read your peer's case report and evaluate it using the following 3 questions: (1) Is the emergency management dose calculation weight-based and clinically correct? If not, specify what is wrong and what the correct approach is. (2) Is the family counselling section written in plain language that a non-medical parent could understand? Identify one sentence that should be simplified and suggest how. (3) What is the single most important clinical point this report communicates well? Provide specific, constructive feedback in 200–300 words.